DisGeNET - a database of gene-disease associations

List of associated variants

MYELODYSPLASTIC SYNDROME, C3463824

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs3745274	CYP2B6	0.672	0.480	19	41006936	missense variant	G/A;T	snv	4.0E-06; 0.27		30
rs752746786	GNB1	0.742	0.560	1	1806503	missense variant	A/C;G;T	snv	4.0E-06		30
rs2308321	MGMT	0.653	0.480	10	129766800	missense variant	A/G	snv	9.3E-02	8.7E-02	29
rs1799977	MLH1	0.662	0.440	3	37012077	missense variant	A/C;G;T	snv	0.23		28
rs121434596	NRAS	0.677	0.440	1	114716123	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		26
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			25
rs121913615	MPL	0.683	0.240	1	43349338	missense variant	G/C;T	snv	8.0E-06		25
rs371769427	U2AF1	0.683	0.400	21	43104346	missense variant	G/A;T	snv	8.0E-06		24
rs1057520007	TP53	0.701	0.440	17	7674917	missense variant	T/A;C;G	snv			21
rs121434595	NRAS	0.708	0.320	1	114716124	missense variant	C/A;G;T	snv			19
rs121913502	IDH2	0.708	0.320	15	90088702	missense variant	C/A;T	snv	3.2E-05		19
rs1800067	ERCC4	0.716	0.320	16	13935176	missense variant	G/A	snv	5.6E-02	5.3E-02	17
rs2072671	CDA	0.752	0.280	1	20589208	missense variant	A/C	snv	0.28	0.25	16
rs147001633	DNMT3A	0.776	0.240	2	25234373	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06; 2.2E-04		15
rs755174338	ERCC2	0.732	0.360	19	45364096	missense variant	C/T	snv	2.6E-05	1.4E-05	15
rs745564626	XRCC3 ; KLC1	0.752	0.280	14	103699003	missense variant	C/G;T	snv	4.3E-05		14
rs2228526	ERCC6	0.752	0.200	10	49470671	missense variant	T/C	snv	0.22	0.19	13
rs1805388	LIG4	0.790	0.120	13	108211243	missense variant	G/A	snv	0.18	0.16	11
rs267606870	IDH2	0.763	0.280	15	90088703	missense variant	G/A;C	snv			11
rs1470755915	RUNX1T1	0.776	0.240	8	92005229	missense variant	C/A	snv		7.0E-06	10
rs2308327	MGMT	0.790	0.280	10	129766906	missense variant	A/G	snv	9.4E-02	8.7E-02	10
rs2230641	CCNH	0.807	0.240	5	87399457	missense variant	A/G;T	snv	0.18	0.17	8
rs371246226	U2AF1	0.827	0.160	21	43094667	missense variant	T/C;G	snv	2.4E-05; 2.4E-05		8
rs1057519960	SF3B2	0.827	0.280	11	66063413	missense variant	A/G	snv			7
rs121913488	FLT3	0.807	0.120	13	28018505	missense variant	C/A;G;T	snv			7